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Case Reports
. 2018 Jan-Mar;13(1):88-90.
doi: 10.4103/JPN.JPN_67_17.

Aicardi-Goutières Syndrome: Brief Case Report

Luis Rafael Moscote-Salazar  1 , Willem Guillermo Calderon-Miranda  2 , Ray Vicente Deluquez Baute  3 , Amit Agrawal  4 , Guru Dutta Satyarthee  5 , Johana Maraby-Salgado  1 , Huber Said Padilla-Zambrano  1 , Daniela Lopez-Cepeda  1 , Alfonso Pacheco-Hernandez  1 , Andrei F Joaquim  6
Affiliations
Case Reports

Aicardi-Goutières Syndrome: Brief Case Report

Luis Rafael Moscote-Salazar et al. J Pediatr Neurosci. 2018 Jan-Mar.

Abstract

The case of a term newborn diagnosed with Aicardi-Goutières syndrome, a rare encephalopathy in our environment, with Mendelian inheritance pattern, characterized by a set of nonspecific neurological symptoms associated with typical findings of intracerebral calcifications. The case is presented with diagnostic imaging, in addition to elevated levels of interferon alpha and cerebrospinal fluid lymphocytosis.

Keywords: Cerebral atrophy; cerebral calcifications; dystonia; encephalopathy; interferon alpha; lymphocytosis; pediatrics; spasticity.

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Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
Cranial tomography, involvement of the periventricular white matter
Figure 2
Figure 2
(A and B) Magnetic resonance 1) T1 weighted image hypointensity of white matter as a sign of leukodystrophy
See this image and copyright information in PMC

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